Watch CBS News

Teenager Pushes For Awareness Of Rare Diseases

By Kathy Walsh

DENVER (CBS4) - On a rare day -- Feb. 29 -- Colorado joined an international campaign to recognize rare diseases.

It's called Rare Disease Day. Parents, doctors and others used leap day this year to raise awareness of the impact rare diseases have on people's lives.

Ellen and Genny Ruble
Ellen and Genny Ruble (credit: CBS)

A rare disease is also referred to as an "orphan" disease. It's any disorder that affects a small percentage of the population. In the U.S., that means fewer than 200,000 people.

Genny Ruble of Greenwood Village has a syndrome so rare it took 16 years to figure out she had it. It's called congenital bilateral perisylvian syndrome. Until 2 years ago, Genny's mother, Ellen Ruble, had never heard of it and 18-year-old Genny had no idea she had it.

Ellen was delighted when Genny was born. She already had twin boys and now a seemingly healthy baby girl.

Ellen and Genny Ruble
Ellen and Genny Ruble (credit CBS)

"But within about one week she stopped eating," Ellen Ruble told CBS4 Health Specialist Kathy Walsh.

Genny was on a feeding tube for 18 months. With therapy, she learned to chew and swallow, but Genny had trouble with speech and fell behind in school.

"It was very, very hard to come home and do homework and then having kids sit there and make fun of you for not being at the level that they were at," Genny said.

Ellen and Genny Ruble
Ellen and Genny Ruble (credit: CBS)

Two years ago, Genny had an MRI that led to a specialist and finally the perisylvian syndrome diagnosis.

"It's not curable, but it gave us and it gave Genny something to say 'This is what I have and I'm okay,'" Ellen said.

According to Ellen, there are just 1,200 cases of perisylvian syndrome in the world. She says seven are in Colorado. The Rubles joined in Rare Disease Day at the Colorado State Capitol to share their challenges and let Genny speak for many who can't.

"To this day, I'm the person that I want to be and I love who I turned out to be from when I was little," Genny said.

This was the ninth international Rare Disease Day. It is usually held on Feb. 28.

For more information go to rarediseases.org.

Kathy Walsh is CBS4's Weekend Anchor and Health Specialist. She has been with CBS4 for more than 30 years. She is always open to story ideas. Follow Kathy on Twitter @WalshCBS4.

View CBS News In
CBS News App Open
Chrome Safari Continue
Be the first to know
Get browser notifications for breaking news, live events, and exclusive reporting.